Archive for the ‘Kids’ Category

New Answers

Here’s the scoop in a nutshell: Chloe, who has never had a true diagnosis, finally has a diagnosis! It seems that she has a mutation in gene EBF3 which caused a genetic syndrome that involves developmental delay and other characteristics. It’s a brand new find in the world of genetics so there’s not much to know other than that. If you want the whole story in a long blog post, keep reading…and sorry for the spoiler. ūüėČ And, now, for the rest of the story:

 

IMG_3511Earlier this month, we got a very interesting phone call from Chloe’s geneticist.¬† It seems it was possibly the most interesting news from her in …about 15 years.¬†

Remember that Chloe remains undiagnosed. Early on, neurologists and geneticists could not agree if her issues were genetic or neurological. Finally everyone agreed that it was genetic, but still there was no diagnosis. Chloe continued to see her geneticist each year, and if there were any new tests that had been developed over the last 12 months, then she was sent for those tests. But each test came back normal or inconclusive. Eventually, her doctors started calling it Chloe Syndrome since there were no answers.

Several years ago, Chloe did a whole genome sequencing and microarray study when it was first developed. It was a very smart, very high tech, very exciting genetic test that held a lot of hope for answers. It was a way to look at the very ends of genes and chromosomes to see if there were any smaller deletions or mutations. It was very expensive and wasn’t often covered by insurance. Chloe’s doctors jumped through many hoops to get the genome sequencing set up. The sequencing included extensive studies of Chloe’s blood samples and Paul’s and my blood. And the results took months to come back. But, again, in the end, these reports showed no answers and no diagnosis.¬†

A side note here in case you don’t know about the world of genes… through the years, syndromes and diseases have been identified, and many of them can be seen in gene studies. When a doctor tests to see if a person has a specific syndrome, the lab can be pinpointed to look at that specific gene to look for a mutation or a deletion. Likewise, if a mutation is found in a particular gene, it will sometimes lead to a diagnosis if that gene is associated with a certain syndrome. However, sometimes, a mutation can be seen in a gene, but it doesn’t lead to diagnosis because that gene hasn’t been associated with any syndrome and/or that gene hasn’t been connected to any disease or dysfunction. So, while Chloe’s gene sequencing showed a few abnormalities, the abnormalities were not of note because those genes had not been identified as being pathogenic (disease-causing).¬†

Fast forward to our phone call. Chloe’s geneticist had just received in the mail a letter from Baylor Medicine saying they had revisited Chloe’s sequencing because of a couple of very new studies and discoveries, and they thought maybe they had found the gene responsible for Chloe’s issues.¬†

Wow. We (and her doctor) were shocked. It was honestly never expected to ever find the cause of Chloe’s medical issues. It was hoped, yes. But even at our recent appointment at the genetics clinic, the doctor again explained that we likely would never have any answers.¬†

The letter pointed to one of Chloe’s genetic mutations and mentioned some recent studies that had finally linked this particular gene with some similarities in a very small group of patients. After some research, we definitely agree that this newfound information sheds light on Chloe’s issues. The similarities in the patients identified very closely resembles Chloe’s health history; thus, we have found the cause of Chloe’s genetic syndrome.

Sooooooo… the culprit mentioned in the letter…. the culprit that is the root of all of Chloe’s issues is a slight mutation in Chloe’s EBF3 gene. Never heard of it? Well, that’s because until very recently, EBF3 was not linked to any change of function or cause of disease so it has not been talked about. Until now.

Again, while the variance in EBF3 showed up when they first ran her genome sequencing a few years ago, at that time it was inconsequential because that gene had not been recognized to have any pathogenic effect. However, now they have found some clinical similarities associated with that gene. 

There are a small handful of articles that have been published in the last year discussing several studies surrounding EBF3 and a small number of patients who have a mutation. In fact, one of the studies from October 2016 includes 10 patients…”subjects,” if you will. And while I was reading the study, I was surprised to realize that Chloe was actually Subject 8 in that study! The subjects are never named, but there were several tell-tale details that made it clear that it was Chloe. Pretty cool that our girl was involved in one of the very first studies of patients involving this particular gene! (The unanswered question is why didn’t they notify the families a year ago that they were making some advances with a diagnosis….)

Through these research studies, the researchers determine clinical similarities between subjects who have the mutation. And with these similarities, they form a list of characteristics that most people with a mutation in gene EBF3 exhibit.

According to the research studies, it seems that patients with EBF3 variance have the following issues:

  • Low/weak muscle tone (Hypotonia)
  • Developmental delay
  • Balance/gait issues (Ataxia)
  • Expressive language issues
  • Urinary tract issues/ namely vesicoureteral reflux
  • Strabismus (eye muscle issues)
  • Weak facial muscles (inability to smile)
  • Autism-like symptoms
  • Repetitive muscle movements¬†

Shall I go on??? 

Amazing, right? It’s an exact list of Chloe’s issues. There is literally nothing mentioned in the studies that doesn’t ring true with Chloe! She has additional medical issues that are not on their list. But the truth is, some of those will likely be added to the list as doctors and scientists perform more studies with a larger group of patients.¬†

So there you have it. EBF3. 

It looks like currently there are maybe 30 people identified as having a developmental disability because of a mutation in EBF3. And it has been tagged with the name HADDS: Hypotonia Ataxia Developmental Delay Syndrome. The oldest person that I’ve read about is 25, and then Chloe is maybe the next oldest. Of course, this will continue to change as more individuals are identified. The patients have varying degrees of the characteristics. Some walk; some don’t. Some talk; some don’t. At first glance, it appears that Chloe has a more severe mutation than some, but, again, that may change as more is discovered about this population.¬†

So we have an answer. After nearly 16 years we have an answer.

But literally nothing changes. Chloe’s still the same Chloe. There’s no cure for her syndrome. There’s no new treatment to start. We simply know the gene responsible. And we know that it was a spontaneous mutation — not passed from either parent; sometimes mutations just happen.

But just like that, our family became part of an exclusive “club” that before now had declined our membership. The club of diagnosis. The club of EBF3 mutation. The club of HADDS. Of course, the families in our particular club are at this point still scattered about wondering what to do with the new information. I started a blog specifically to find and unite families who search the web for EBF3. I plan to post on it fairly regularly to keep Google in the loop for anytime someone searches EBF3. I found a Facebook page for families of EBF3. There are only 3 or 4 people in the group — this is still very new, and we are a very small population. But it was exciting to exchange greetings and photos with those families. Who knows? Maybe we will plan some sort of HADDS convention or something and hang with those families just because we can.

And that’s all we have. Thoughts??

Articles if you want to know more:

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Brave…Yes.

Two weeks post op, following a very invasive, major reconstruction surgery of Chloe’s little, skinny, stuck knees and hips, I have to say that I think her choice of theme song is absolutely appropriate and fitting.

I know she still has a long, difficult road ahead of her, but I’m so proud of her strength and determination. And, literally, all but about 4 minutes of the last 2 weeks, she has been steadfast and fearless. For about 4 short minutes, she was tempted to give in to the fear, exhaustion, and desperation‚Ķbut, as usual, she quickly pulled it together right before my eyes and forced the fear and tired-ness away. She’s amazing, if I do say so myself.

So in recognition of 2 weeks post op, here again is the song she has chosen to be her anthem this summer as she fights to stand and walk. Enjoy and be encouraged and challenged. ūüôā

True to Form

As you probably know, Chloe had a major surgery a week and a half ago. And as you also know, we were having some major second thoughts and cold feet in the days leading up to the surgery.

But there is something else to tell about the day before Chloe’s surgery that really helped me regain my focus and purpose for going ahead with surgery.

As I’ve already admitted,¬†the day before surgery, as I was trying to pack and prepare for a week in the hospital, I was an emotional wreck. I had stopped to hide in my bathroom and cry my eyes out several times.

At one point, Zippy randomly pulled out a dvd from a photo shoot of the boys from years ago. In the background of the dvd is a beautiful instrumental song. And the dvd itself is fairly tear-jerking because of the beautiful quotes and sweet photos of my sweet little boys.

While Zippy and I were watching the dvd slideshow, unbeknownst to us, Chloe heard the beautiful music and began to make her way from her bedroom into the TV room to dance to the beautiful music.

I heard a bump in the hallway and turned to look. Chloe had stood up in the doorway of her bedroom and had WALKED, bent at the hips and bent at the knees, all the way down the hall, reaching straight out with both hands to help steady herself with the walls. She was STANDING in the doorway of the TV room and DANCING to the music.

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All of this while I was having my is-this-the-right-decision doubts and cry fests! There my girl was on her feet! Working hard, walking in her crouched down position all the way down the hall, reminding me that THIS is why we are doing this surgery! Walking is important to my girl. She wants to walk; she wants to dance. And THIS is WHY this major surgery journey was the right decision.

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Doubts? Goodbye.

Fears? Present, but understandable in the face of such a major surgery.

2nd thoughts? Nope. Knowing this surgery was the only way to keep Chloe on her feet made this decision a very clear cut one.

Chloe walking down the hall at just the perfect time? It was SO TRUE-to-FORM for her! Amazingly remarkable at just the right time.

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Thank you, Chloe — Thank you, God — for making it very clear.

Forward march!

Nearly Cancelled… Seriously

 


As Chloe’s surgery drew closer and closer, we all became more and more anxious about the process and the results. Chloe was feeling the stress. I was feeling the stress. Paul was feeling the stress. The boys were feeling the stress — but showing it and feeling it in completely unique ways.

Would the pain be too much?

Have we made the right decision?

Should we really be opting for this surgery for our girl?

Would there be complications?

A few days before surgery, Chloe came down with a cold or allergies or something. I thought maybe that was going to be our ticket off this scary train we were on. But the doctors still okayed her to have the surgery.

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Anxiety became stress. Stress became fear. Fear became panic. This was a really big deal, and it was scary.

A few days before the surgery, at the doctor’s recommendation, I talked to a local mom whose son had a very similar surgery by the same surgeon. Hearing her talk about their experiences scared me to death. She was as nice as can be, and she was glad they had done the surgery. But her son’s story was filled with some complications and difficulties that just about scared me off.

I found a couple of blogs of parents of kids who had similar surgeries. The talk was the same: the first 3 days are absolutely terrible, unbearable. The rehab time is brutal.

This mama wanted to turn around and run. And run fast and far. I was filled with doubts and fears and began to panic.

Then, 2 days before surgery, Zippy’s asthma flared up. It was the worst his asthma has been in about 10 years. As the ambulance transported him downtown, I told myself that if he was admitted then I was calling the surgery off. It would be my sign. It would be my sign that the surgery wasn’t supposed to happen.

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He was admitted for his asthma.  The ER doctors gave him tons of medicine, but his asthma was not responding to treatment. They put him on oxygen and even mentioned intubating him. And then they admitted him. Two days before surgery. In the same hospital where Chloe would have her surgery.

Was this it, then? Should I call and cancel the surgery?

Paul was shocked that I was even considering canceling. (But he hadn’t talked to that mama I had talked to! He hadn’t heard the stories!) He didn’t agree that Zippy’s being admitted should be my sign. He argued we should continue with surgery as planned because it would be a nightmare to re-think the timing of a different date. (And he was right. But it was hard to separate my fears at this point.)

So I reluctantly agreed to pack for the hospital after Zippy was discharged from the hospital….

The day before surgery, Mother’s Day, I was an emotional wreck. I cried hard several times. And I’m not a cryer. It hurt down deep thinking about what my girl was about to endure. It hurt my heart knowing that while Chloe understood the process pretty well and wanted to do it, the reality was she probably had no idea of the level of pain she was going to experience. I cried big and hard several times. I was terrified.

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I kept going into Chloe’s room and looking at her beautiful legs. Her perfectly imperfect legs. I rubbed them and photographed them and kissed them and stared at them. After tomorrow, they would be forever different. This was the last day I would ever see those legs‚Ķ. I was seriously a wreck.

But the day of surgery, I was back in my brave mama mode. I was up and ready and set for what was before us‚Ķfor what was before my girl. My emotions were definitely right on the surface and could’ve burst forth at any moment for most of the day, but for the most part I was set and ready. Once while waiting for the doctor to come for surgery, I caught a glimpse ¬†of her little skinny knees and nearly lost it. But I quickly pulled it together.

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Then the doctor came, we said, “See ya later,” and “I love you,” to Chloe, and they wheeled that precious gift with those skinny little stuck knees right out of the room and down the hall to surgery.

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Yeah. It was a biggie. And we felt it.

Week One Surgery and Recovery

As I type this post, we are waiting for Chloe to be discharged from the hospital. We are 5 days post op, and Chloe has been a champ! As usual, her high pain tolerance came to bat for her this week and resulted in a much better than expected week.

We had a room-full of support the morning of surgery. Friends and family kept us fed and entertained and helped the time pass more quickly. You guys are a real blessing to us!

The surgery itself took 4 and a half hours. The nurse who was circulating with Chloe called each hour to give us the update on how things were going. Everything went well. At the end of the surgery, Dr. Mayfield came out and let us know that he was very pleased with how things went.

On Chloe’s right leg, the doctor was able to fix a 52 degree angle, and on the left, it was even greater than 52. That is a significant improvement!

The doctor wasn’t sure if he would snip the tendons in her hips or not until he examined them under anesthesia. But he said it was clear that they were in need some release so he did that bilaterally at the same time.

When we finally saw Chloe after surgery, it was remarkable how flat the bed was! Her little knees weren’t sticking up through the sheets, her legs were straight and flat! Wow! What a sight!

Chloe was very glad to finally get up to our room away from talkative, loud nurses and rest! (No offense, nurses, but y’all know how it is!)

Her epidural was unsuccessful so, instead, she was on a morphine pump IV. She had a button to push for extra doses, and the nurses could give her extra doses when needed, too.

We feel like her pain was well-controlled the whole time, and she got the hang of pushing that button, for sure!

The day after surgery, they had her sitting on the side of the bed with the help of the physical therapist. And on day 2 she was transferring from the bed to the wheelchair. She was progressing faster and doing better than anyone expected.

On the 2nd or 3rd day after surgery, her surgeon stood over her bed, shaking his head and said, “I just had no idea she was going to do so well.” This from the doctor who wasn’t totally convinced she was even a good candidate for the surgery 2 months ago.

We believe God just blessed Chloe over and over again. There are lots of people following her recovery and praying for her daily. You can follow along by liking her page here.

She is strong, she is a fighter, and she is doing so well.

She did develop some pressure sores that we are monitoring closely. She ran a low-grade fever for a couple of days. She had a rough night or two with increased pain. But overall, this week after surgery has been a breeze! Even Chloe would say so, I think.

We are so relieved and so thankful.

Yes, we still have a long road ahead of us with recovery and rehab. And Chloe still has a whole lot of work to do to get her new legs working again. But this first week that we were really dreading is nearly behind us!

Friends have set up a GoFundMe account for our family. If you’re interested, you can follow that link to help.

Chloe has had a stream of visitors that have kept her encouraged.

Really and truly, we are already so blessed by everyone’s support, concern, and love. Thank you!

Moving right along….

Question of Bones

Big points to my cousin in Florida for asking a great question about muscles vs. bones.

If you have no idea what we are even talking about, read this post first. It will fill you in on Chloe’s upcoming surgery.

My cousin’s question is: “Is shortening the bone easier than ‘stretching’ the muscles and tendons?”

I nearly addressed this in my original surgery post, but it was getting so long I decided not to. But it brings up a couple of really good points that are key to why this surgery is the better fit for Chloe.

First, the short answer is that NO, shortening the bone is NOT easier than manipulating tendons and muscles. Both the skill and difficulty of the surgery itself and of the recovery time and process would be way simpler and easier if it were only involving muscles and tendons.

Lengthening or releasing muscles and tendons is a great and helpful procedure for many patients. However, there are 2 main reasons that this femur extension surgery is a better fit for Chloe at this time.

First, the doctor is wanting to fix a greater degree of angle than a tendon/muscle procedure would fix. In fact, the doctor’s goal for Chloe’s surgery is to fix 45-50 degrees of her contracture! That’s a significant change. And it’s not a change that a tendon/muscle release would accomplish. If I remember correctly, a tendon/muscle release fixes closer to 10-15 degrees. Chloe’s contracture is significantly worse than that.

The other big reason this femur surgery is a better fit for Chloe is that the end goal is increased function. If the only goal were straightening, then a different surgery might be an easier option. But since the end goal is more functionality in walking and standing for Chloe, then it is important to keep the muscles and tendons more intact. Simply put, if we go to snipping those muscles, then she loses the functionality of controlling them for walking and getting around.

I did mention though that the doctor does plan to slightly release her tendon at the hips. He is going to do it quite conservatively so as not to lose that function. This tendon portion will be an easy surgery to go back and do again if we decide he needs to release it some more later. But for now, erring on the conservative side is the best choice for her. Time will tell if she would benefit from any releasing later on.

So again, thanks for the great question. And don’t hesitate to ask some more.

(*disclaimer: I am obviously not a doctor‚Ķ These posts are my way of updating friends and family on Chloe’s upcoming surgery, not to be the final word on medical procedures or judgements. ¬†These posts are purposely written in a very simplified and general way so as not to run everyone off with crazy vocabulary and medical talk. And guess what? I might mis-speak the logistics now and then so don’t be citing¬†the journals on me‚Ķ. I’m communicating the general idea, and it’s okay. ¬†Thanks. :))

Operation: Straighten Those Legs

IMG_6822It is time to update our friends and family on a big, upcoming surgery for Chloe.

But, first…

The background:

For the past few years, Chloe has been losing the ability to walk and even to straighten her legs. Her muscles have continued to tighten and shorten to the point that now her knees are half-bent at their straightest and she is bent forward at quite an angle at her hips, too. To imitate how difficult standing and walking have become for her, put your self in a wall squat position and attempt to walk around the room while holding that position. It is quite laborious! Because of the pain and difficulty this position causes, Chloe usually chooses to move around in her wheelchair or by crawling on the floor. While these 2 modes of mobility are totally fine, she wants to stay on her feet.

There is no clear explanation for this decline in mobility. Doctors’ best explanations are quick growth and results of puberty. Puberty tends to wreak havoc on the bodies of kids with neurological issues.

For a couple of years, doctors have mentioned different procedures and surgeries that might possibly help straighten her back up. But there has never been much clear guidance for them about which one might be most successful. Remember that Chloe remains quite a mystery since she is still¬†undiagnosed. The best doctors can do is speculate what might work since they don’t have a comparison of others with her diagnosis.

Recently, Chloe had the opportunity to be the subject of a highly specialized gait analysis. The details of getting her into that clinic and the story of her amazing performance there is the subject of a later blog post. (Someone remind me to tell the story soon if I forget!) But the results of that gait analysis led doctors to pinpoint which procedure is the most likely to help her. Doctors determined there was one surgery that might be able to keep her on her feet by straightening her legs.

The surgery:

The name of the surgery is Distal Femural Extension Osteotomy. Basically, the surgery consists of cutting a wedge out of each femur just above the knee (yes, cutting through the¬†bones and removing a chunk out of each) and repositioning the bone at an angle, thus, “over correcting” it and making the leg straighter. The bones will be¬†held back together with plates and screws, “deforming” the femur bone in order to have a straighter leg. It’s quite an extensive surgery to consider.¬†The surgery is a way of bypassing the knee in order to straighten the leg. You can watch a video here. (Don’t worry — there’s no blood or anything. It’s actually a training video with a model.)

The doctor will also slightly release the tendons in her hip flexors at the same time, but that is a very minor portion of the surgery. Releasing her hip flexors will slightly straighten her body at the waist. Hopefully the muscles will continue to stretch to bring her more upright.

The doctors are opting to leave the integrity of all of the leg muscles as is; and the hope and expectation is that those muscles will all stretch with the new angle and will remain able to function fully.

The recovery:

At the time of the surgery, Chloe will be hospitalized for 3-4 nights. Then she will go home to rest and recover for 4 weeks. She can’t put any weight on her legs for those 4 weeks.

Then a month after surgery, she will be admitted back into the hospital for 4 weeks for intensive rehab therapy which will continue to strengthen and lengthen the muscles in her legs and teach her how to use her legs with their new angle. A month in the hospital is a long time, but what a great opportunity for Chloe to make progress!

The decision:

Perhaps in another blog post, I’ll tell you some of the things that seemed to us to be significant ways that God has been orchestrating this whole thing for a while. Too many coincidences to be coincidences‚Ķ, you know?

We sought counsel and second opinions for several months while praying that God would guide our decision.

Doctors agreed in the end that this major surgery is the only way to keep Chloe on her feet. While the process will be painful and time-consuming (ALL-consuming!), it is really the only option available to us at this point.

Chloe has known about the possibility of this surgery from the day we¬†learned¬†about it. We felt that it was important for her to be a big part of the decision. She has wanted to do the surgery all along. She wants to stand, to walk, to cheer, and to dance. As the time draws near and conversations become more real, her anxieties are definitely increasing. (As are ours!) But she still says she wants to do it. The other day while we were talking about it, she typed that, yes, she still wants to do the surgery because “legs helps her to stand up.” She is the most persistent, hardest-working person I know so if anyone can do this thing well, it’s her! She’s ready to go.

The plan:

We have a small window of time in which to do this surgery. It’s now or never. It’s a one-time-chance kind of deal. There’s no guarantee of success. But it is the only and best option available. And we are grateful for the opportunity.

Surgery is scheduled for May 9 (less than 2 weeks from now!) and will happen here in Fort Worth. Chloe will stay in the hospital for most of that week with careful pain management and recovery time. Then we will go home for rest, rest, recovery, and more rest. Four weeks of lying around.

Then, she will go back into the hospital around June 6 and will most likely be in the hospital through July 4. That month will be spent doing intensive therapy several times a day and determining what braces and supports her new legs might need. This surgery is literally redesigning the motor dynamics of her body so we don’t know what all that will entail.

The only guarantee at this point is¬†that her legs will be straighter at the end of this process. We are also hoping and praying for increased function in walking and standing. We are hoping it is much easier for her to walk. And we hope she is able to dance and to cheer on her feet to her heart’s desire.

And the usual:

Feel free to ask questions. Chloe is privileged to have so many people who love her and care about her success. The better you understand the surgery and recovery, the more specifically you can pray for her. And we definitely appreciate all your prayers!

Stay tuned….

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